Linked Data
dbSNP Id:
rs777178847
ExAC:
2:241515989 G / A
gnomAD v2:
2-241515989-G-A
gnomAD v3:
2-240576572-G-A
gnomAD v4:
2-240576572-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240576572G>A , CM000664.2:g.240576572G>A | GRCh38 |
| NC_000002.11:g.241515989G>A , CM000664.1:g.241515989G>A | GRCh37 |
| NC_000002.10:g.241164662G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270357.10:c.1548G>A MANE Select | ENSP00000270357.4:p.Pro516= | |
| ENST00000270357.8:c.855G>A | ENSP00000270357.3:p.Pro285= | |
| ENST00000437406.1:c.114G>A | ENSP00000403319.1:p.Pro38= | |
| ENST00000451363.5:c.189G>A | ENSP00000414661.1:p.Pro63= | |
| ENST00000464550.5:n.384G>A | ||
| ENST00000471657.1:n.351G>A | ||
| ENST00000481757.5:n.2482G>A | ||
| ENST00000486058.5:n.1661G>A | ||
| ENST00000493398.5:n.694G>A | ||
| NM_018226.4:c.1548G>A | NP_060696.4:p.Pro516= | |
| XM_005247036.3:c.1515G>A | XP_005247093.1:p.Pro505= | |
| NM_018226.5:c.1548G>A | NP_060696.4:p.Pro516= | |
| XM_005247036.4:c.1515G>A | XP_005247093.1:p.Pro505= | |
| NM_018226.6:c.1548G>A MANE Select | NP_060696.4:p.Pro516= |